Tuesday 15 June 2004
Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation.
The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1.
Homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD).
X-linked Pelizaeus-Merzbacher disease (PLP1 mutations)
autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD) (GJA12)
Magen D, Georgopoulos C, Bross P, Ang D, Segev Y, Goldsher D, Nemirovski A, Shahar E, Ravid S, Luder A, Heno B, Gershoni-Baruch R, Skorecki K, Mandel H. Mitochondrial Hsp60 Chaperonopathy Causes an Autosomal-Recessive Neurodegenerative Disorder Linked to Brain Hypomyelination and Leukodystrophy. Am J Hum Genet. 2008 Jun 18. PMID: #18571143#